Overview
The study aims to identify a genotype/phenotype correlation by analyzing more finely the neurodevelopmental disorders in DMD patients.
Description
We propose a unique longitudinal study in which DMD children aged 5-12 years old will first be engaged in a deep evaluation of a range of cognitive, behavioral, physiological and neural functions (identification of biomarkers based on ERG) and an eligible subgroup of patients will then enter a second study phase (last 2 years) aimed at developing targeted cognitive remediation strategies:
- Deep evaluation with research of correlation between DMD patients' genotype and neurological/neuropsychological phenotype: - the nature and severity of the cognitive/executive/behavioral deficits, - the retinal/visual alterations, - functional brain imaging.
- Targeted cognitive remediation strategies in the same patients, to alleviate the identified neuropsychological and behavioral disturbances. We will place a particular focus on the socio-cognitive and executive weaknesse.
Eligibility
Inclusion Criteria:
- French citizenship, affiliated to the French Social Security,
- 5 to 12 years old,
- DMD diagnosis confirmed by a genetic analysis predicting breaking in the reading frame of the DMD gene with knowledge of the limits of the mutation,
- Follow-up in a French referral or a skills center belonging to Filnemus.
Exclusion Criteria:
- Severe intellectual deficiency with IQ \< 55, and IQ \< 70 for the deep neurocognitive evaluation (executive and socio-cognitive evaluation),
- Cataract except if operated (pseudophakic),
- High intraocular pressure,
- Cardiac dysfunction with left ventricular ejection fraction \< 35%,
- Respiratory dysfunction with force vital capacity \< 70%,
- Difficulties in fine motor skills with D3 MFM scale \< 75%
- Treatment with methylphenidate: In case of hyperactive patients, the treatment will be transitorily interrupted the week before testing.
